Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus۲۰۲۵مرور نظام مند۱ استنادنمایه شده در PubMed
Andrew Kaler, Vatsal Lal, Virang Kumar, Shivam Gulhar, Natario Couser
چکیده
IFT140-related recessive ciliopathy is associated with variants in the IFT140 gene and encompasses a syndromic phenotype or a purely ocular phenotype. However, the associations of the specific variants in IFT140 with the resulting syndromic or ocular phenotype have not been systematically…
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DOI: 10.1016/j.jaapos.2025.104281